Amino
Acid Screen, Plasma or Serum
Test Includes: All amino acids.
Availability: Mon. - Fri., 0800 - 1700
Turnaround Time: 2-10 days.
Minimum Volume: 0.1 mL (at least 0.3 mL preferred).
Specimen Handling: Centrifuge and separate from cells
within 1 hour of drawing. Refrigerate or
freeze serum or plasma.
Interpretive Reference Range: Subjective interpretation.
Use: Screening for inborn errors of amino acid metabolism.
Limitations: Should always be done in conjunction with
urine amino acid analysis. Detection of some
disorders, e.g. sarcosinemia, requires quantitative analysis.
Methodology: Paper chromatography.
Additional Information: A variety of inherited metabolic
disorders result in aminoacidemia. These
include phenylketonuria, maple syrup urine disease, cystathionine synthase deficiency (homocystinuria),
citrullinemia, hyperlysinemia and hyperprolinemia. Some disorders,
e.g. argininosuccinic acidemia,
cystinosis and Hartnup disease, are better
screened for in urine than blood. CSF amino acids are
necessary in the diagnosis of nonketotic hyperglycinemia (glycine encephalopathy).
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Page updated 11/9/2009
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